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Gene entry

RHBDF2

rhomboid 5 homolog 2

Chromosome
17
Cytoband
17q25.1
Variants (rsID)
15

RHBDF2 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 17 (region 17q25.1). Its official name is “rhomboid 5 homolog 2”. The reference table lists 15 variants (rsID) for this gene.

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Clinically classified variants

4 reference-table entries with clinical significance.

  • rs73998915Benignsingle nucleotide variantPalmoplantar keratoderma-esophageal carcinoma syndrome
  • rs11553545Conflicting interpretationssingle nucleotide variantPalmoplantar keratoderma-esophageal carcinoma syndrome
  • rs143503813Conflicting interpretationssingle nucleotide variantPalmoplantar keratoderma-esophageal carcinoma syndrome
  • rs187556554Conflicting interpretationssingle nucleotide variantPalmoplantar keratoderma-esophageal carcinoma syndrome

Other listed variants

Public references

Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.